K84N (p.Lys84Asn) variant of RAD21 (O60216)
K84N (p.Lys84Asn) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
K84N (p.Lys84Asn) variant details
- p.Lys84Asn
- rs2130479393
- ClinGen CA372010481
- ClinVar RCV001757474
- Ensembl rs2130479393
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.34
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)